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neurocutaneous melanocytosis - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:neurocutaneous melanocytosis
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Accession:EFO:MONDO:0009578 term browser browse the term
Definition:Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.
Synonyms:exact_synonym: NCM;   Orphanet:2481;   http://identifiers.org/medgen/154259;   http://identifiers.org/mesh/C537387;   http://linkedlifedata.com/resource/umls/id/C0544862;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/403221860;   https://omim.org/entry/249400;   neurocutaneous melanosis, somatic
 related_synonym: NCMS;   Neuromelanosis;   melanosis, neurocutaneous;   neurocutaneous melanosis syndrome
 alt_id: MONDO:0009578
 xref: GARD:7186;   MEDGEN:154259;   MESH:C537387;   MIM:249400;   NANDO:2200827;   ORDO:2481;   UMLS:C0544862;   icd11.foundation:403221860

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            hereditary neurological disease 0
              neurocutaneous melanocytosis 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          cancer or benign tumor 0
            neoplastic disease or syndrome 0
              neoplasm 0
                benign neoplasm 0
                  integumentary system benign neoplasm 0
                    benign neoplasm of skin 0
                      melanocytic nevus 0
                        neurocutaneous melanocytosis 0
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